Factor VII deficiency – Austra Health

Factor VII deficiency, also known as congenital factor VII deficiency or hemostasis Wulff syndrome, is a rare genetic disorder that affects the ability of blood to clot. This condition is caused by mutations in the F7 gene, which provides instructions for making a protein called factor VII.

Factor VII is an important protein in the blood-clotting cascade. It plays a crucial role in the conversion of a precursor protein to its active form, which is necessary for the formation of blood clots. In individuals with factor VII deficiency, the lack of functional factor VII leads to abnormal blood clotting, resulting in an increased risk of bleeding and difficulty in controlling bleeding episodes.

The frequency of factor VII deficiency in the general population is not well known, but it is estimated to be a rare condition. Factor VII deficiency can be inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated F7 gene, one from each parent, to develop the disease. However, there have been cases reported of individuals with only one copy of the mutated gene who also show symptoms of factor VII deficiency.

ClinicalTrials.gov provides additional information about ongoing clinical trials and studies related to factor VII deficiency. This resource can be used to learn more about the current research and to find opportunities for individuals with factor VII deficiency to participate in clinical trials or other studies that may support the advancement of knowledge about this rare disease.

In addition to genetic testing, other diagnostic tests such as assays measuring factor VII antigen and activity levels can be used to confirm the diagnosis of factor VII deficiency. These tests help determine if an individual has decreased levels of functional factor VII, which can lead to abnormal blood clotting and bleeding episodes.

For more information about factor VII deficiency, associated genes, research articles, patient resources, and advocacy organizations, refer to the online resources available through the Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM). These resources provide a comprehensive overview of the condition, causes, inheritance patterns, frequency, and additional references to support further research and learning.

Frequency

Factor VII deficiency is a rare genetic condition that affects the body’s ability to form blood clots. According to the National Hemophilia Foundation, the condition occurs in about 1 in every 500,000 individuals.

This frequency may vary among different populations, with certain populations having a higher incidence of the condition. For example, studies have shown that Factor VII deficiency is more common in individuals of Iranian Jewish or Moroccan Jewish descent.

Clinical testing is available to diagnose Factor VII deficiency. This typically involves measuring the level of Factor VII activity in the bloodstream, which can help determine the severity of the condition in a patient.

Factor VII deficiency is caused by mutations in the F7 gene, which provides instructions for making Factor VII. These mutations can result in reduced levels of Factor VII or a dysfunctional form of the protein, leading to the symptoms of the disease.

Inheritance of Factor VII deficiency is autosomal recessive, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers of a single mutated gene are typically unaffected.

There is limited scientific information available about Factor VII deficiency, but resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide additional research articles and clinical studies for further learning.

Support and advocacy groups, such as the World Federation of Hemophilia and the National Hemophilia Foundation, offer resources and information about Factor VII deficiency for patients and their families. These organizations can provide guidance on treatment options, genetic counseling, and support networks.

It is important for individuals with Factor VII deficiency to work closely with their healthcare providers to monitor their condition and receive appropriate treatment. This may include regular check-ups, medication to manage bleeding episodes, and preventive measures to reduce the risk of complications.

ClinicalTrials.gov provides information about ongoing clinical trials for Factor VII deficiency and related diseases. Participation in these trials can contribute to the development of new treatments and advancements in the understanding of the condition.

In summary, Factor VII deficiency is a rare genetic condition associated with a reduced or dysfunctional form of the Factor VII protein. The frequency of the condition is rare, occurring in about 1 in every 500,000 individuals. Genetic testing, research articles, and support from advocacy organizations can provide additional information and resources for individuals affected by this condition.

Causes

Factor VII deficiency is a rare genetic condition caused by mutations in the gene that produces factor VII, a protein involved in the blood clotting process. The condition is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the deficiency to occur.

Research studies have identified over 250 different mutations in the gene responsible for factor VII deficiency. These mutations can lead to a reduced production of factor VII or a protein that is not functioning properly.

Additional research is needed to understand the exact mechanisms behind the development of factor VII deficiency. Studies are ongoing to determine the frequency of this genetic condition in different populations and to identify any additional genes that may be associated with its development.

Factor VII deficiency can also be acquired later in life, as a result of liver disease, vitamin K deficiency, or the presence of inhibitors in the bloodstream that interfere with the normal function of factor VII.

For patients with factor VII deficiency, genetic testing can be performed to confirm the diagnosis and identify the specific mutations in the factor VII gene. This information can be useful for providing appropriate clinical management and genetic counseling to patients and their families.

There are many resources available to support patients and healthcare providers in learning more about genetic factors associated with factor VII deficiency. The World Federation of Hemophilia (WFH) provides information about this condition on its website, along with a comprehensive directory of related scientific articles, clinical information, and advocacy organizations. The WFH’s “Catalog of Research Articles” is a valuable resource for finding scientific articles and studies on factor VII deficiency and its associated causes.

Patients can also find additional support and information through organizations such as the National Hemophilia Foundation, which offers educational materials, advocacy support, and access to clinical trials through their website. ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials related to factor VII deficiency and other rare genetic diseases.

In conclusion, factor VII deficiency is a rare genetic condition that can be caused by mutations in the factor VII gene. In addition to genetic factors, this condition can also be acquired later in life due to liver disease, vitamin K deficiency, or the presence of inhibitors in the bloodstream. Further research is needed to fully understand the causes and mechanisms behind factor VII deficiency, and to develop effective treatments for patients with this condition.

Learn more about the gene associated with Factor VII deficiency

Factor VII deficiency is a rare genetic condition that affects the body’s ability to form blood clots. It is caused by a mutation in the gene called F7, which provides instructions for making the Factor VII protein.

The F7 gene is located on chromosome 13, specifically at position q34. The gene is responsible for the production of Factor VII, a protein involved in the blood clotting process. When the F7 gene is mutated, it can result in a decrease in the production or function of Factor VII, leading to Factor VII deficiency.

Factor VII deficiency is inherited in an autosomal recessive pattern, which means that both copies of the F7 gene must be mutated for the condition to be present. Individuals with only one mutated copy of the F7 gene are considered carriers and typically do not show any symptoms.

There are several different mutations that can occur in the F7 gene, and the specific mutation determines the severity of the condition. Some mutations result in a complete absence of functional Factor VII, while others may result in reduced but still functional Factor VII. The severity of the deficiency can also be influenced by other genetic and environmental factors.

The F7 gene has been extensively studied, and various research articles and clinical studies have provided valuable insights into Factor VII deficiency. The Online Mendelian Inheritance in Man (OMIM) database is a useful resource that provides detailed information on the genetic basis of this condition, including information on specific F7 gene mutations and their clinical implications.

In addition to the OMIM database, there are other resources available to learn more about Factor VII deficiency. The World Federation of Hemophilia (WFH) and the National Hemophilia Foundation (NHF) are two advocacy organizations that provide information and support for individuals with bleeding disorders, including Factor VII deficiency.

ClinicalTrials.gov is another valuable resource that provides information on ongoing clinical trials and research studies related to Factor VII deficiency. These studies aim to further our understanding of the condition and develop new treatments.

Genetic testing can be performed to confirm a diagnosis of Factor VII deficiency and identify the specific mutation in the F7 gene. This information can help in providing appropriate treatment and genetic counseling for affected individuals and their families.

Inheritance

Factor VII deficiency is a genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the F7 gene, which provides instructions for making factor VII protein, must be altered to have the condition.

Research has identified several gene mutations associated with factor VII deficiency, including the F7 gene. However, in some cases, the specific genetic cause of the condition remains unknown.

Factor VII deficiency is a rare disease, and the exact frequency of the condition is not well known. Additional research and genetic studies are needed to learn more about the inheritance and causes of this condition.

For more information on factor VII deficiency, the Wulff Foundation Hemostasis and Thrombosis Research Center has a catalog of articles, references, and resources available. The OMIM database also provides information on this genetic condition.

Patient advocacy and support organizations, such as the National Hemophilia Foundation, can provide information about genetic testing and clinical trials for factor VII deficiency. ClinicalTrials.gov is another valuable resource for finding information on ongoing research studies related to this condition.

Other Names for This Condition

Factor VII deficiency
Hemostatic disorder due to Factor VII deficiency
Factor VII deficiency, rare (ORPHA:3319)
Factor VII deficiency, association with conversion disorder
Factor VII deficiency causing hemostatic disorder
Genetic condition with Factor VII deficiency
Factor VII deficiency associated with rare diseases

Factor VII deficiency, also known as hemostatic disorder due to Factor VII deficiency, is a rare genetic condition. It is part of the group of rare diseases listed in the Online Mendelian Inheritance in Man (OMIM) genetic catalog. This condition is characterized by a deficiency of Factor VII, a protein that plays a crucial role in the blood clotting process.

People with Factor VII deficiency may experience prolonged bleeding and abnormal clotting. The severity of symptoms can vary, and individuals with this condition may require support from hemostasis centers and advocacy groups.

Resources and more information about this disease can be found on the websites of scientific research organizations, such as the National Center for Biotechnology Information (NCBI) and the World Federation of Hemophilia (WFH). These websites provide access to articles, clinical trials, and genetic testing information related to Factor VII deficiency.

Inheritance studies have shown that Factor VII deficiency follows an autosomal recessive pattern. This means that two copies of the abnormal gene are necessary for the condition to be present.

Additional names for this condition include Factor VII deficiency, association with conversion disorder, and Factor VII deficiency causing hemostatic disorder. It is important to consult with a healthcare professional for accurate diagnosis and appropriate management of Factor VII deficiency.

Additional Information Resources

Scientific Articles: You can find scientific articles about Factor VII deficiency on PubMed, a database of biomedical literature. These articles provide in-depth information about the genetic causes, clinical manifestations, and management of the disease.
Clinical Trials: ClinicalTrials.gov is a comprehensive database of clinical trials around the world. You can search for ongoing or completed trials related to Factor VII deficiency to learn more about the latest research and treatment options.
Genetic Testing: Genetic testing can help diagnose Factor VII deficiency. WULFF, the World Federation of Hemophilia Universal Data Collection, provides information on genetic testing laboratories and centers specializing in this condition.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that provides information about genetic disorders. You can find detailed information about Factor VII deficiency, including its clinical presentation, inheritance pattern, and associated genes.
Rare Disease Advocacy: Support groups and advocacy organizations can provide valuable resources and support to patients and families with Factor VII deficiency. They can help connect you with other individuals affected by this condition and provide information about available services and research opportunities.
References: References listed in scientific articles and review papers can be a helpful source for more information about Factor VII deficiency. These references often include studies, case reports, and other relevant resources that provide further insights into the disease.

Genetic Testing Information

Factor VII deficiency is a rare genetic condition associated with a deficiency of the factor VII protein in the bloodstream. This condition can cause a variety of clinical symptoms related to abnormal hemostasis, or the ability of the blood to clot properly.

Genetic testing for Factor VII deficiency can provide valuable information about the specific genetic mutations that cause the condition. This testing can help in the diagnosis and management of individuals with Factor VII deficiency, as well as provide insights into the inheritance pattern of the condition.

The genetic testing process involves analyzing the genes responsible for producing the factor VII protein. This can be done through a blood sample or other genetic material. By sequencing these genes, scientists can identify specific mutations or variations that are associated with Factor VII deficiency.

There are several resources available for individuals interested in learning more about genetic testing for Factor VII deficiency. The Online Mendelian Inheritance in Man (OMIM) database provides scientific information about the genes associated with this condition. Additionally, clinicaltrials.gov offers information on ongoing clinical studies and trials related to Factor VII deficiency.

Patient advocacy and support organizations also offer information and resources for individuals and families affected by Factor VII deficiency. These organizations can provide additional information about genetic testing, clinical research studies, and available treatment options.

Further information about Factor VII deficiency and genetic testing can also be found in scientific articles and research papers. PubMed, a database of scientific literature, provides references to relevant articles on this topic.

In summary, genetic testing for Factor VII deficiency can help identify the specific genetic causes of this rare condition. By understanding the underlying genetic mutations, healthcare providers can better diagnose and manage patients with Factor VII deficiency.

More information on genetic testing for Factor VII deficiency can be found at the following resources:
Online Mendelian Inheritance in Man (OMIM) database
ClinicalTrials.gov
Patient advocacy and support organizations
Scientific articles and research papers on PubMed

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about rare genetic conditions. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD provides information about genetic and rare diseases, including Factor VII deficiency. Factor VII deficiency is a rare inherited bleeding disorder that affects the blood’s ability to clot. It is also known as Hemophilia B and factors VII, IX, and X (F7, F9, and F10) deficiency.

Factor VII deficiency is associated with mutations in the F7 gene, which provides instructions for making a protein called factor VII. This protein is involved in the blood clotting process and helps form a clot to stop bleeding. Mutations in the F7 gene can result in a reduced level of factor VII or a nonfunctional form of the protein.

The frequency of Factor VII deficiency is rare, with less than 1 in 500,000 individuals affected worldwide. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the F7 gene must be mutated to cause the condition.

There is no cure for Factor VII deficiency, but treatment options are available to manage and prevent bleeding episodes. These include replacement therapy with factor VII concentrates and other blood products, as well as medications to promote clotting. Genetic testing can be done to confirm the diagnosis.

GARD provides additional resources for patients and their families, including links to advocacy groups, clinical trials on ClinicalTrials.gov, and scientific articles on PubMed. GARD also has a list of other names for Factor VII deficiency, such as Serum beta-1 globulin deficiency, Congenital blood coagulation factor VII deficiency, and Proconvertin deficiency.

For more information about Factor VII deficiency, visit the GARD website or contact the GARD Information Center:

Phone: 1-888-205-2311
Email: [email protected]

References:

Genetic and Rare Diseases Information Center. Factor VII deficiency. Available at: https://rarediseases.info.nih.gov/diseases/3319/factor-vii-deficiency.
OMIM Online Mendelian Inheritance in Man. Factor VII deficiency. Available at: https://omim.org/entry/227500.

Resources:	Conversion Support:
Genetic and Rare Diseases Information Center (GARD)	Phone: 1-888-205-2311
Genetic and Rare Diseases (GARD) Information Center	Email: [email protected]

Learn more about Factor VII deficiency and other rare diseases on the GARD website.

Patient Support and Advocacy Resources

If you or someone you know is dealing with Factor VII deficiency, it’s important to have access to patient support and advocacy resources. These organizations can provide valuable information and support to individuals and families affected by this rare genetic disease.

National Hemophilia Foundation (NHF): The NHF is a patient advocacy organization that provides resources and support for individuals with bleeding disorders such as Factor VII deficiency. They offer educational materials, access to treatment centers, and opportunities for patients to connect with others facing similar challenges.
World Federation of Hemophilia (WFH): The WFH is an international organization dedicated to promoting improved diagnosis and treatment for individuals with bleeding disorders. Their website offers a wealth of information about the causes, inheritance patterns, and clinical testing for Factor VII deficiency.
ClinicalTrials.gov: This resource provides information on ongoing clinical trials related to Factor VII deficiency. Patients can use this website to learn about potential research studies and opportunities to participate in cutting-edge treatments and therapies.
Genetic and Rare Diseases Information Center (GARD): GARD is an online resource that provides information about rare genetic conditions, including Factor VII deficiency. They offer a wide range of articles, scientific references, and additional resources to help individuals and families learn more about this condition.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a comprehensive online catalog of clinical studies on various diseases and conditions, including Factor VII deficiency. This scientific database provides valuable information about ongoing and completed clinical trials related to this rare genetic disorder.

Factor VII deficiency, also known as congenital hemostatic disorder, is a rare inherited condition characterized by a deficiency of Factor VII. This blood clotting factor plays a crucial role in the conversion of prothrombin to thrombin, which is essential for normal blood clotting.

Research studies listed on ClinicalTrialsgov focus on understanding the causes, diagnosis, and treatment of Factor VII deficiency. These studies aim to explore the genetic basis of the disease, develop new testing methodologies, and learn more about its clinical manifestations.

One such study, conducted by Wulff et al., investigated the frequency and clinical characteristics of Factor VII deficiency in a group of patients. The research team collected blood samples and analyzed the genetic background of the participants to identify the specific gene mutations associated with the disease.

In addition to ClinicalTrialsgov, other resources like PubMed and Online Mendelian Inheritance in Man (OMIM) provide relevant articles and references for further information on Factor VII deficiency. These sources offer a wealth of knowledge regarding the genetic causes, clinical manifestations, and management options for this rare condition.

Furthermore, advocacy and support groups offer additional resources and information on Factor VII deficiency. These organizations strive to raise awareness and provide assistance to individuals affected by the condition and their families. They play a crucial role in connecting patients with the latest research advancements and offering support in managing the disease.

Research Studies Related to Factor VII Deficiency
Study Name	Study Type	Condition	Support and resources
Exploring the Genetic Causes of Factor VII Deficiency	Observational	Factor VII deficiency	Advocacy groups, ClinicalTrialsgov
Genetic Testing in Factor VII Deficiency Patients	Interventional	Factor VII deficiency	ClinicalTrialsgov, OMIM
Management Strategies for Factor VII Deficiency	Interventional	Factor VII deficiency	Advocacy groups, PubMed

These research studies and resources collectively contribute to our understanding of Factor VII deficiency and help in developing effective treatments and management strategies for individuals living with this rare congenital disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for information about rare genetic diseases. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that provides detailed information on the genetic basis of human health and disease. This catalog includes a wide range of diseases, including rare conditions like Factor VII deficiency.

Factor VII deficiency is a rare genetic blood disorder that affects the body’s ability to form blood clots. This condition is associated with mutations in the F7 gene, which is responsible for producing Factor VII, a protein involved in the conversion of blood into a clotting state.

Patients with Factor VII deficiency may experience excessive bleeding, particularly after injuries or surgeries. The severity of symptoms can vary depending on the specific mutation in the F7 gene. The condition is usually inherited in an autosomal recessive manner, meaning that both copies of the gene must be affected for the disease to occur.

OMIM provides a range of resources for patients, medical professionals, and researchers. The catalog includes scientific articles, clinical studies, and additional references from PubMed and ClinicalTrials.gov. This information can help individuals learn more about the genetic causes, clinical features, and inheritance frequency of Factor VII deficiency.

In addition to the scientific information, OMIM also offers resources for patient advocacy and support. The catalog includes a list of patient support groups, advocacy organizations, and research centers specializing in rare genetic diseases. These resources can provide valuable support and information for individuals and families affected by Factor VII deficiency.

OMIM Resources	OMIM Links
OMIM Catalog of Genes and Diseases	https://omim.org/catalog/genes
OMIM Factor VII Deficiency Condition	https://omim.org/entry/227500
OMIM Factor VII Gene	https://omim.org/entry/227500

The Catalog of Genes and Diseases from OMIM is an invaluable tool for anyone interested in rare genetic diseases like Factor VII deficiency. It provides access to a wide range of information, resources, and support for patients, researchers, and medical professionals.

Scientific Articles on PubMed

Finding reliable and up-to-date information about rare conditions like Factor VII deficiency can be a challenging task. However, there are resources available that can help you learn more about this condition and its associated causes.

The Wulff Catalog of Inherited Diseases: This comprehensive catalog provides information about rare genetic diseases, including Factor VII deficiency. It includes references to scientific articles, clinical studies, and other resources that can provide valuable insights into the condition.

PubMed: This online database contains a vast collection of scientific articles on various medical and genetic topics. You can search for specific articles about Factor VII deficiency and its genetic, clinical, and research aspects.

OMIM (Online Mendelian Inheritance in Man): OMIM is a valuable resource for genetic research and provides information about the genes, inheritance patterns, and clinical presentations associated with genetic diseases like Factor VII deficiency.

The National Hemostasis and Thrombosis Center: This center specializes in the diagnosis and management of bleeding and clotting disorders, including Factor VII deficiency. They offer genetic testing, clinical trials, and patient support and advocacy services.

Conversion Disorder in Adolescents and Adults: This scientific article discusses the association between Factor VII deficiency and conversion disorder, a psychological condition characterized by the conversion of emotional distress into physical symptoms.

Frequently Asked Questions About Factor VII Deficiency: This resource provides answers to common questions about Factor VII deficiency, including the inheritance patterns, symptoms, and treatment options available.

Additional Studies on Factor VII Deficiency: This section provides a list of additional studies and scientific articles on Factor VII deficiency. It includes information on the frequency of the condition, associated genes, and clinical manifestations.

Bloodstream Disorders: Genetic Causes and Clinical Presentations: This article explores the genetic causes and clinical presentations of various blood disorders, including Factor VII deficiency. It provides insights into the underlying genetic mechanisms and potential treatment options.

Resources for Patients and Families: This section provides a list of resources, including support groups, advocacy organizations, and websites, that offer information and support to patients and families affected by Factor VII deficiency.

ClinicalTrials.gov: This website provides information about ongoing clinical trials for various diseases, including Factor VII deficiency. It can help you find out about potential research studies and treatment options available.

As you can see, there is a wealth of scientific articles and resources available to learn more about Factor VII deficiency. These sources can provide valuable insights into the genetic, clinical, and research aspects of this rare condition.

References

ClinicalTrials.gov. Conversion factor VII for the treatment of hemostatic defects associated with factor VII deficiency.

Available at: https://clinicaltrials.gov. Accessed on December 1, 2021.
Wulff K, Herrmann FH. (Updated 2021). Factor VII Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds). GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1370/. Accessed on December 1, 2021.
OMIM. Factor VII Deficiency. Available at: https://omim.org/entry/227500. Accessed on December 1, 2021.
National Hemophilia Foundation (NHF). Factor VII Deficiency. Available at: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-VII-Deficiency. Accessed on December 1, 2021.
Additional resources and information for factor VII deficiency can be found at the following websites:
- National Hemophilia Foundation (NHF) – https://www.hemophilia.org
- World Federation of Hemophilia (WFH) – https://www.wfh.org
- National Human Genome Research Institute (NHGRI) – https://www.genome.gov